%A Anderson,Kerry %A Cañadas-Garre,Marisa %A Chambers,Robyn %A Maxwell,Alexander Peter %A McKnight,Amy Jayne %D 2019 %J Frontiers in Genetics %C %F %G English %K chromosome Y,Genotyping arrays,Imputation,Genome-wide association (GWA),Haplogroup,LOY,Microdeletion,variation,Chronic Kidney Disease %Q %R 10.3389/fgene.2019.00781 %W %L %M %P %7 %8 2019-September-04 %9 Mini Review %+ Kerry Anderson,Epidemiology and Public Health Research Group, Centre for Public Health, Queen’s University of Belfast, c/o Regional Genetics Centre, Belfast City Hospital,United Kingdom,kanderson26@qub.ac.uk %# %! Chromosome Y and Chronic Kidney Disease %* %< %T The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease %U https://www.frontiersin.org/articles/10.3389/fgene.2019.00781 %V 10 %0 JOURNAL ARTICLE %@ 1664-8021 %X The role of chromosome Y in chronic kidney disease (CKD) remains unknown, as chromosome Y is typically excluded from genetic analysis in CKD. The complex, sex-specific presentation of CKD could be influenced by chromosome Y genetic variation, but there is limited published research available to confirm or reject this hypothesis. Although traditionally thought to be associated with male-specific disease, evidence linking chromosome Y genetic variation to common complex disorders highlights a potential gap in CKD research. Chromosome Y variation has been associated with cardiovascular disease, a condition closely linked to CKD and one with a very similar sexual dimorphism. Relatively few sources of genetic variation in chromosome Y have been examined in CKD. The association between chromosome Y aneuploidy and CKD has never been explored comprehensively, while analyses of microdeletions, copy number variation, and single-nucleotide polymorphisms in CKD have been largely limited to the autosomes or chromosome X. In many studies, it is unclear whether the analyses excluded chromosome Y or simply did not report negative results. Lack of imputation, poor cross-study comparability, and requirement for separate or additional analyses in comparison with autosomal chromosomes means that chromosome Y is under-investigated in the context of CKD. Limitations in genotyping arrays could be overcome through use of whole-chromosome sequencing of chromosome Y that may allow analysis of many different types of genetic variation across the chromosome to determine if chromosome Y genetic variation is associated with CKD.